A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3976709



Internal ID19231434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:11497466..11500466hg38UCSC Ensembl
Outerchr12:11650400..11653400hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg383001
hg193001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1124654
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3976709
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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